Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants by Maria Clara Bonaglia, Eliana Salvo, Manuela Sironi, Sara Bertuzzo, Edoardo Errichiello, Edoardo Errichiello, Teresa Mattina, Teresa Mattina, Orsetta Zuffardi

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Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature by Agostino Gaudio, Anastasia Xourafa, Rosario Rapisarda, Cristina Gorgone, Maria Gnoli, Elena Pedrini, Luca Sangiorgi, Antonino Catalano, Luca Zanoli, Teresa Mattina, Pietro Castellino

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A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study by Giuseppe Lanza, Francesco Calì, Mirella Vinci, Filomena Irene Ilaria Cosentino, Mariangela Tripodi, Rosario Sebastiano Spada, Mariagiovanna Cantone, Rita Bella, Teresa Mattina, Raffaele Ferri

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Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study by Vera Uliana, Paola Sebastio, Matteo Riva, Diana Carli, Claudio Ruberto, Laura Bianchi, Claudio Graziano, Irene Capelli, Flavio Faletra, Roberto Pillon, Teresa Mattina, Alberto Sensi, Francesco Bonatti, Antonio Percesepe

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Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21 by Maria Chiara Pelleri, Elena Cicchini, Michael B. Petersen, Lisbeth Tranebjærg, Teresa Mattina, Pamela Magini, Francesca Antonaros, Maria Caracausi, Lorenza Vitale, Chiara Locatelli, Marco Seri, Pierluigi Strippoli, Allison Piovesan, Guido Cocchi

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Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association by Maria Chiara Pelleri, Chiara Locatelli, Teresa Mattina, Maria Clara Bonaglia, Francesca Piazza, Pamela Magini, Francesca Antonaros, Giuseppe Ramacieri, Beatrice Vione, Lorenza Vitale, Marco Seri, Pierluigi Strippoli, Guido Cocchi, Allison Piovesan, Maria Caracausi

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A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery by Daniel Danis, Michael J. Bamshad, Yasemin Bridges, Andrés Caballero-Oteyza, Pilar Cacheiro, Leigh C. Carmody, Leonardo Chimirri, Jessica X. Chong, Ben Coleman, Raymond Dalgleish, Peter J. Freeman, Adam S.L. Graefe, Tudor Groza, Peter Hansen, Julius O.B. Jacobsen, Adam Klocperk, Maaike Kusters, Markus S. Ladewig, Anthony J. Marcello, Teresa Mattina, Christopher J. Mungall, Monica C. Munoz-Torres, Justin T. Reese, Filip Rehburg, Bárbara C.S. Reis, Catharina Schuetz, Damian Smedley, Timmy Strauss, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, John F. Wagstaff, David Zocche, Melissa A. Haendel, Peter N. Robinson

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